GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, type IC

Disease characteristics

Excerpted from the GeneReview: Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened.

Available tests

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Associated genes

Clinical features

  • Hyporeflexia
  • Distal muscle weakness
  • Hypertrophic nerve changes
  • Distal sensory impairment
  • Segmental peripheral demyelination/remyelination
  • Onion bulb formation
  • Pes cavus
  • Decreased motor nerve conduction velocity
  • Distal amyotrophy
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